FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

715484003: Ophthalmomandibulomelic dysplasia (disorder)


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
5400925016 Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400926015 Ophthalmomandibulomelic dysplasia is characterised by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302784019 Ophthalmomandibulomelic dysplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
5400925016 Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400926015 Ophthalmomandibulomelic dysplasia is characterised by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
600981000274118 Pillay-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449311001000110 Ophthalmo-mandibulo-mele Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930321000172117 syndrome OMM (ophtalmo-mandibulo-mélique) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948601000172115 dysplasie ophtalmo-mandibulo-mélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930321000172117 syndrome OMM (ophtalmo-mandibulo-mélique) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948601000172115 dysplasie ophtalmo-mandibulo-mélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600981000274118 Pillay-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449311001000110 Ophthalmo-mandibulo-mele Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ophthalmomandibulomelic dysplasia Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ophthalmomandibulomelic dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ophthalmomandibulomelic dysplasia Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmomandibulomelic dysplasia Is a Hereditary corneal dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmomandibulomelic dysplasia Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ophthalmomandibulomelic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ophthalmomandibulomelic dysplasia Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ophthalmomandibulomelic dysplasia Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ophthalmomandibulomelic dysplasia Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ophthalmomandibulomelic dysplasia Finding site Corneal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ophthalmomandibulomelic dysplasia Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ophthalmomandibulomelic dysplasia Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ophthalmomandibulomelic dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ophthalmomandibulomelic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ophthalmomandibulomelic dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ophthalmomandibulomelic dysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ophthalmomandibulomelic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ophthalmomandibulomelic dysplasia Is a Congenital structural abnormality of cornea false Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmomandibulomelic dysplasia Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ophthalmomandibulomelic dysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ophthalmomandibulomelic dysplasia Finding site Corneal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ophthalmomandibulomelic dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ophthalmomandibulomelic dysplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmomandibulomelic dysplasia Is a Congenital dystrophy of cornea (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start