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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3324661014 Hirschsprung disease with type D brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402644018 Hirschsprung disease-type D brachydactyly syndrome is characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402645017 Hirschsprung disease-type D brachydactyly syndrome is characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3324660010 Hirschsprung disease with type D brachydactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324661014 Hirschsprung disease with type D brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402644018 Hirschsprung disease-type D brachydactyly syndrome is characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402645017 Hirschsprung disease-type D brachydactyly syndrome is characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3411841001000112 Hirschsprung-Krankheit Typ D - Brachydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008801000172118 syndrome de maladie de Hirschsprung-brachydactylie type D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008801000172118 syndrome de maladie de Hirschsprung-brachydactylie type D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411841001000112 Hirschsprung-Krankheit Typ D - Brachydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hirschsprung disease with type D brachydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Is a Brachydactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Is a Congenital aganglionic megacolon (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Finding site Parasympathetic nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Finding site Autonomic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with type D brachydactyly syndrome Associated morphology hypertrophie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hirschsprung disease with type D brachydactyly syndrome Finding site Entire digit false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hirschsprung disease with type D brachydactyly syndrome Is a Inherited autonomic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Is a Congenital dilatation of colon (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 9
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with type D brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with type D brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with type D brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with type D brachydactyly syndrome Finding site Colon structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with type D brachydactyly syndrome Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with type D brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with type D brachydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Finding site Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hirschsprung disease with type D brachydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hirschsprung disease with type D brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hirschsprung disease with type D brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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