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721222007: Hirschsprung disease with type D brachydactyly syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324660010 Hirschsprung disease with type D brachydactyly syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3324661014 Hirschsprung disease with type D brachydactyly syndrome en Synonym Active Case sensitive SNOMED CT core
3324662019 This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Some 2
Hirschsprung disease with type D brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hirschsprung disease with type D brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hirschsprung disease with type D brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure true Inferred relationship Some 2
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure true Inferred relationship Some 3
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Abnormally short growth true Inferred relationship Some 1
Hirschsprung disease with type D brachydactyly syndrome Finding site Entire digit true Inferred relationship Some 1
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Hypertrophy true Inferred relationship Some 3
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Dilatation true Inferred relationship Some 2
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 4
Hirschsprung disease with type D brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Hirschsprung disease with type D brachydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Finding site Structure of peripheral part of autonomic nervous system true Inferred relationship Some 5
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Hirschsprung disease with type D brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 5
Hirschsprung disease with type D brachydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Is a Brachydactyly true Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Is a Hirschsprung's disease true Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Finding site Parasympathetic nervous system structure false Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Finding site Autonomic nerve structure true Inferred relationship Some 4
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Congenital hypertrophy false Inferred relationship Some 7
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital false Inferred relationship Some 7
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure false Inferred relationship Some 7
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Abnormally short growth false Inferred relationship Some 8
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital false Inferred relationship Some 8
Hirschsprung disease with type D brachydactyly syndrome Finding site Entire digit false Inferred relationship Some 8
Hirschsprung disease with type D brachydactyly syndrome Is a Inherited autonomic nervous system disorder true Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Is a Congenital dilatation of colon true Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital false Inferred relationship Some 9
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure false Inferred relationship Some 9
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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