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

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

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

3889691000052115 Hirschsprungs sjukdom med brakydaktyli av typ D sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
3889691000052115	Hirschsprungs sjukdom med brakydaktyli av typ D	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)