FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

715484003: dysplasie ophtalmo-mandibulo-mélique (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302784019 Ophthalmomandibulomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302785018 Ophthalmomandibulomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302786017 Pillay syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302787014 OMM (ophthalmomandibulomelic) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
747641000241118 dysplasie ophtalmo-mandibulo-mélique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
930321000172117 syndrome OMM (ophtalmo-mandibulo-mélique) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
948601000172115 dysplasie ophtalmo-mandibulo-mélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302788016 Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. 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
Ophthalmomandibulomelic dysplasia (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) est un(e) (attribut) Congenital anomaly of cornea false Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) localisation d'une constatation (attribut) cornée (structure corporelle) true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) est un(e) (attribut) Congenital dystrophy of cornea (disorder) true Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Ophthalmomandibulomelic dysplasia (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Ophthalmomandibulomelic dysplasia (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) est un(e) (attribut) Hereditary corneal dystrophy true Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 4
Ophthalmomandibulomelic dysplasia (disorder) localisation d'une constatation (attribut) cornée (structure corporelle) false Inferred relationship Some 4
Ophthalmomandibulomelic dysplasia (disorder) localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 5

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