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721223002: Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3324663012 Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3324664018 Hirschsprung disease with nail hypoplasia and dysmorphism en Synonym Active Case sensitive SNOMED CT core
3324665017 Al Gazali Donnai Muller syndrome en Synonym Active Case sensitive SNOMED CT core
3324666016 A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. 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 nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Bone structure of face true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Hypertrophy true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital dilatation false Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Large intestine part false Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Disorder of colon false Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Hypoplasia true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Dilatation true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Nail unit structure true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Genetic disorder of nail true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Developmental hereditary disorder true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Structure of peripheral part of autonomic nervous system true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Morphologically abnormal structure true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Developmental abnormality false Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Congenital anomaly of face bones true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Congenital anomaly of nail true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Multiple system malformation syndrome true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Hirschsprung's disease true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Inherited disorder of connective tissue false Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Digestive system hereditary disorder true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Hereditary disorder of the integument true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Parasympathetic nervous system structure false Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Autonomic nerve structure true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Some 10
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital hypertrophy false Inferred relationship Some 10
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure false Inferred relationship Some 10
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital dilatation false Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure false Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Bone structure of face false Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Inherited autonomic nervous system disorder true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Congenital dilatation of colon true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Some 11
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital hypoplasia false Inferred relationship Some 11
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Nail structure false Inferred relationship Some 11

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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