loading...| Preferred Name | Ichthyosis, Lamellar | |
| Synonyms |
Lamellar Ichthyoses Syndrome, Harlequin Baby Syndromes, Harlequin Baby Harlequin Fetus Ichthyosiforme, Nonbullous Erythroderma Collodion Baby Syndromes Desquamation of Newborn Congenital Nonbullous Ichthyosiform Erythroderma Ichthyosis Congenita Collodion Fetus Nonbullous Erythroderma Ichthyosiformes Baby Syndromes, Harlequin Ichthyosiform Erythroderma, Nonbullous Congenital Fetus, Harlequin Ichthyosis Congenita I Baby Syndromes, Collodion Ichthyosiformes, Nonbullous Erythroderma Baby Syndrome, Harlequin Fetus, Collodion Ichthyosis, Lamellar, 1 Ichthyosis, Harlequin Harlequin Baby Syndromes Nonbullous Congenital Ichthyosiform Erythroderma Newborn Desquamation Harlequin Ichthyoses Congenita IIs, Ichthyosis Erythroderma Ichthyosiforme, Nonbullous Nonbullous Erythroderma Ichthyosiforme Erythroderma Ichthyosiformes, Nonbullous Ichthyoses, Harlequin Congenital Ichthyosiform Erythroderma, Nonbullous Newborn Lamellar Exfoliations Lamellar Ichthyose Lamellar Exfoliation of Newborn Lamellar Ichthyosis, Type 1 Congenita II, Ichthyosis Ichthyosis Congenita II Ichthyosis Congenita IIs Newborn Desquamations Ichthyoses, Lamellar Baby Syndrome, Collodion Harlequin Ichthyosis Syndrome, Collodion Baby Syndromes, Collodion Baby Ichthyose, Lamellar Collodion Baby Syndrome Nonbullous Congenital Lamellar Ichthyosis Lamellar Ichthyosis Newborn Lamellar Exfoliation Harlequin Baby Syndrome |
|
| Definitions |
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D017490 |
|
| altLabel |
Lamellar Ichthyoses Syndrome, Harlequin Baby Syndromes, Harlequin Baby Harlequin Fetus Ichthyosiforme, Nonbullous Erythroderma Collodion Baby Syndromes Desquamation of Newborn Congenital Nonbullous Ichthyosiform Erythroderma Ichthyosis Congenita Collodion Fetus Nonbullous Erythroderma Ichthyosiformes Baby Syndromes, Harlequin Ichthyosiform Erythroderma, Nonbullous Congenital Fetus, Harlequin Ichthyosis Congenita I Baby Syndromes, Collodion Ichthyosiformes, Nonbullous Erythroderma Baby Syndrome, Harlequin Fetus, Collodion Ichthyosis, Lamellar, 1 Ichthyosis, Harlequin Harlequin Baby Syndromes Nonbullous Congenital Ichthyosiform Erythroderma Newborn Desquamation Harlequin Ichthyoses Congenita IIs, Ichthyosis Erythroderma Ichthyosiforme, Nonbullous Nonbullous Erythroderma Ichthyosiforme Erythroderma Ichthyosiformes, Nonbullous Ichthyoses, Harlequin Congenital Ichthyosiform Erythroderma, Nonbullous Newborn Lamellar Exfoliations Lamellar Ichthyose Lamellar Exfoliation of Newborn Lamellar Ichthyosis, Type 1 Congenita II, Ichthyosis Ichthyosis Congenita II Ichthyosis Congenita IIs Newborn Desquamations Ichthyoses, Lamellar Baby Syndrome, Collodion Harlequin Ichthyosis Syndrome, Collodion Baby Syndromes, Collodion Baby Ichthyose, Lamellar Collodion Baby Syndrome Nonbullous Congenital Lamellar Ichthyosis Lamellar Ichthyosis Newborn Lamellar Exfoliation Harlequin Baby Syndrome |
|
| AN |
do not coord with INFANT, NEWBORN, DISEASES |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C4551630 C0239849 C3543867 C0020758 C3536797 C0079154 |
|
| DC |
1 |
|
| definition |
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. |
|
| DX |
19930101 |
|
| HN |
1993; use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; ERYTHRODERMA ICHTHYOSIFORME, NONBULLOUS use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, use ICHTHYOSIS 1979-1990 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1993; see ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; ERYTHRODERMA ICHTHYOSIFORME, NONBULLOUS see ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, see ICHTHYOSIS 1979-1990 |
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538603 http://purl.bioontology.org/ontology/MESH/C565473 http://purl.bioontology.org/ontology/MESH/C564699 http://purl.bioontology.org/ontology/MESH/C537265 http://purl.bioontology.org/ontology/MESH/C537263 http://purl.bioontology.org/ontology/MESH/C537264 |
|
| MDA |
19920520 |
|
| MMR |
20190705 |
|
| MN |
C17.800.428.333.250.410 C17.800.804.512.400.410 C16.131.831.512.400.410 C17.800.827.400.410 C16.614.492.400.410 C16.320.850.400.410 |
|
| notation |
D017490 |
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| prefLabel |
Ichthyosis, Lamellar |
|
| TERMUI |
T052483 T052487 T834211 T834210 T834185 T052486 T800588 T052484 T800586 T753572 T052482 T841865 T841864 T834202 T052481 T751782 T841563 T834208 T845015 T834209 T052485 T800585 |
|
| TH |
OMIM (2013) NLM (1993) NLM (1999) NLM (2010) GHR (2014) NLM (2014) ORD (2010) |
|
| tui |
T047 T019 |
|
| subClassOf |