SNOMED CT

Last uploaded: August 28, 2024
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Preferred Name

Congenital absence of skeletal muscle
Synonyms

Congenital absence of skeletal muscle (disorder)
ID

http://purl.bioontology.org/ontology/SNOMEDCT/38776003
Active

1
altLabel

Congenital absence of skeletal muscle (disorder)
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009
CTV3ID

XUD38
cui

C0265518
DEFINITION STATUS ID

900000000000073002
Effective time

20020131
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/418560003
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/127954009
Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002
notation

38776003
Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel

Congenital absence of skeletal muscle
Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPTARGET~E28.39

6011000124106~MAPTARGET~Q79.4

6011000124106~MAPRULE~IFA 253817004 | Congenital absent hemidiaphragm - bilateral (disorder) |

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~4

6011000124106~MAPADVICE~IF PRUNE BELLY SYNDROME CHOOSE Q79.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPRULE~IFA 236796004 | Hypogonadism with prune belly syndrome (disorder) |

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPTARGET~Q25.6

6011000124106~MAPPRIORITY~8

6011000124106~MAPADVICE~IF HYPOGONADISM WITH PRUNE BELLY SYNDROME CHOOSE Q79.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

6011000124106~MAPTARGET~F79

6011000124106~MAPADVICE~ALWAYS Q79.8 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

6011000124106~MAPTARGET~Q79.1

447562003~CORRELATIONID~447561005

6011000124106~MAPRULE~IFA 720757001 | Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPADVICE~IF HYPOGONADISM WITH PRUNE BELLY SYNDROME AND IF FEMALE CHOOSE E28.39 | MAP IS CONTEXT DEPENDENT FOR GENDER

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 236796004 | Hypogonadism with prune belly syndrome (disorder) | AND IFA 248152002 | Female (finding) |

6011000124106~MAPRULE~IFA 72424001 | Congenital absence of diaphragm (disorder) |

6011000124106~MAPTARGET~E29.1

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~IF HYPOGONADISM WITH PRUNE BELLY SYNDROME AND IF MALE CHOOSE E29.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP IS CONTEXT DEPENDENT FOR GENDER

6011000124106~MAPADVICE~IF CONGENITAL ABSENT HEMIDIAPHRAGM - BILATERAL CHOOSE Q79.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q78.8

6011000124106~MAPRULE~IFA 236529001 | Prune belly syndrome with pulmonic stenosis, mental retardation and deafness (disorder) |

6011000124106~MAPTARGET~H91.90

447562003~MAPPRIORITY~1

6011000124106~MAPADVICE~IF PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION AND DEAFNESS CHOOSE Q25.6 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~OTHERWISE TRUE

900000000000497000~MAPTARGET~XUD38

6011000124106~MAPPRIORITY~5

6011000124106~MAPGROUP~4

6011000124106~MAPRULE~IFA 236796004 | Hypogonadism with prune belly syndrome (disorder) | AND IFA 248153007 | Male (finding) |

6011000124106~MAPADVICE~IF PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION AND DEAFNESS CHOOSE H91.90 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447639009

447562003~MAPTARGET~Q79.8

447562003~MAPADVICE~ALWAYS Q79.8

6011000124106~MAPPRIORITY~1

6011000124106~MAPTARGET~Q79.8

6011000124106~MAPADVICE~ALWAYS Q79.8

6011000124106~MAPPRIORITY~6

6011000124106~CORRELATIONID~447561005

6011000124106~MAPADVICE~IF CRANIOFRONTONASAL DYSPLASIA WITH POLAND ANOMALY SYNDROME CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION AND DEAFNESS CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 5187006 | Prune belly syndrome (disorder) |

6011000124106~MAPRULE~TRUE

6011000124106~MAPGROUP~3

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~IF CONGENITAL ABSENCE OF DIAPHRAGM CHOOSE Q79.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
tui

T019
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/89886004

http://purl.bioontology.org/ontology/SNOMEDCT/47880003
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