loading...| Preferred Name |
Trichothiodystrophy |
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| Synonyms |
Trichothiodystrophy (disorder) |
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| Definitions |
A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/723551003 |
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| Active |
1 |
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| altLabel |
Trichothiodystrophy (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 |
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| CTV3ID |
XUvCf |
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| cui |
C1955934 |
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| definition |
A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170731 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
723551003 |
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| Occurs in | ||
| prefLabel |
Trichothiodystrophy |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF PHOTOSENSITIVITY WITH ICHTHYOSIS, BRITTLE HAIR, IMPAIRED INTELLIGENCE, DECREASED FERTILITY AND SHORT STATURE SYNDROME CHOOSE Q84.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 403796005 | BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome | AND IFA 248152002 | Female (finding) | 6011000124106~MAPRULE~IFA 403796005 | BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome | AND IFA 248153007 | Male (finding) | 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPADVICE~IF ONYCHO-TRICHO-DYSPLASIA NEUTROPENIA SYNDROME CHOOSE Q82.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~IF PHOTOSENSITIVITY WITH ICHTHYOSIS, BRITTLE HAIR, IMPAIRED INTELLIGENCE, DECREASED FERTILITY AND SHORT STATURE SYNDROME CHOOSE R62.52 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 1003920007 | Sabinas brittle hair syndrome | 6011000124106~MAPADVICE~IF PHOTOSENSITIVITY WITH ICHTHYOSIS, BRITTLE HAIR, IMPAIRED INTELLIGENCE, DECREASED FERTILITY AND SHORT STATURE SYNDROME CHOOSE L56.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPTARGET~Q87.1 6011000124106~MAPADVICE~IF SABINAS BRITTLE HAIR SYNDROME CHOOSE Q82.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~L56.8 6011000124106~MAPADVICE~ALWAYS Q84.2 6011000124106~MAPADVICE~IF ONYCHO-TRICHO-DYSPLASIA NEUTROPENIA SYNDROME CHOOSE Q84.6 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~6 6011000124106~MAPTARGET~N97.8 6011000124106~MAPTARGET~Q87.19 6011000124106~MAPRULE~IFA 403796005 | BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome | 6011000124106~MAPRULE~IFA 238736006 | Clastothrix | 6011000124106~MAPTARGET~L67.0 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPADVICE~IF BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME CHOOSE Q84.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q82.8 6011000124106~MAPTARGET~Q87.89 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF CLASTOTHRIX CHOOSE L67.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q80.9 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME CHOOSE Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~L67.8 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF CLASTOTHRIX CHOOSE L67.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ONYCHO-TRICHO-DYSPLASIA NEUTROPENIA SYNDROME CHOOSE D70.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME AND IF MALE CHOOSE N46.8 | MAP IS CONTEXT DEPENDENT FOR GENDER 6011000124106~MAPADVICE~IF BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~IF PHOTOSENSITIVITY WITH ICHTHYOSIS, BRITTLE HAIR, IMPAIRED INTELLIGENCE, DECREASED FERTILITY AND SHORT STATURE SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPCATEGORYID~447637006 6011000124106~MAPGROUP~5 447562003~MAPADVICE~ALWAYS L67.8 6011000124106~MAPADVICE~IF PHOTOSENSITIVITY WITH ICHTHYOSIS, BRITTLE HAIR, IMPAIRED INTELLIGENCE, DECREASED FERTILITY AND SHORT STATURE SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPGROUP~4 6011000124106~MAPADVICE~IF BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME AND IF FEMALE CHOOSE N97.8 | MAP IS CONTEXT DEPENDENT FOR GENDER 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~Q82.4 6011000124106~MAPTARGET~Q84.2 900000000000497000~MAPTARGET~XUvCf 6011000124106~MAPADVICE~IF PHOTOSENSITIVITY WITH ICHTHYOSIS, BRITTLE HAIR, IMPAIRED INTELLIGENCE, DECREASED FERTILITY AND SHORT STATURE SYNDROME CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~R62.52 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF ONYCHO-TRICHO-DYSPLASIA NEUTROPENIA SYNDROME CHOOSE Q84.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~ALWAYS Q82.8 6011000124106~MAPPRIORITY~6 6011000124106~MAPTARGET~D70.0 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~N46.8 6011000124106~MAPTARGET~L67.8 6011000124106~MAPADVICE~IF PHOTOSENSITIVITY WITH ICHTHYOSIS, BRITTLE HAIR, IMPAIRED INTELLIGENCE, DECREASED FERTILITY AND SHORT STATURE SYNDROME CHOOSE Q80.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 6011000124106~MAPADVICE~IF SABINAS BRITTLE HAIR SYNDROME CHOOSE Q84.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 6011000124106~MAPRULE~IFA 403781006 | Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | 6011000124106~MAPTARGET~Q84.6 6011000124106~MAPRULE~IFA 1003381002 | Onycho-tricho-dysplasia neutropenia syndrome | |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/8654005 http://purl.bioontology.org/ontology/SNOMEDCT/402774006 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 |