FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

722062004: oculo-tricho-dysplasie (trouble)


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
3330430011 Oculotrichodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330431010 Oculotrichodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330432015 Cecatto de Lima Pinheiro syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
758171000241117 oculo-tricho-dysplasie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
893611000172110 syndrome de Cecato de Lima-Pinheiro fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
934221000172117 oculo-tricho-dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3330433013 This disease has characteristics of retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. 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
Oculotrichodysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Oculotrichodysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oculotrichodysplasia (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 1
Oculotrichodysplasia (disorder) est un(e) (attribut) Congenital anomaly of retina (disorder) true Inferred relationship Some
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculotrichodysplasia (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Oculotrichodysplasia (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 2
Oculotrichodysplasia (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 5
Oculotrichodysplasia (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 4
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Oculotrichodysplasia (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Oculotrichodysplasia (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 3
Oculotrichodysplasia (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) rétinite pigmentaire (trouble) false Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Oculotrichodysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Oculotrichodysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Oculotrichodysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Oculotrichodysplasia (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Oculotrichodysplasia (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 4
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some 4
Oculotrichodysplasia (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Oculotrichodysplasia (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 5
Oculotrichodysplasia (disorder) est un(e) (attribut) Autosomal recessive retinitis pigmentosa true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start