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721223002: Hirschsprung disease with nail hypoplasia and dysmorphism (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
3324663012 Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324664018 Hirschsprung disease with nail hypoplasia and dysmorphism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324665017 Al Gazali Donnai Muller syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Colon structure true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Colon structure true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) os de la face (structure corporelle) true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) hypertrophie true Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Large intestine part false Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Disorder of colon (disorder) false Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Congenital anomaly of face bones true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) anomalie congénitale de l'ongle (trouble) true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Hirschsprung's disease true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Parasympathetic nervous system structure false Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Autonomic nerve structure true Inferred relationship Some 5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) Congenital hypertrophy false Inferred relationship Some 10
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Colon structure false Inferred relationship Some 10
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Colon structure false Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) os de la face (structure corporelle) false Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Inherited autonomic nervous system disorder (disorder) true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) Congenital dilatation of colon true Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) congénital false Inferred relationship Some 11
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 11
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 11

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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