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702360007: Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2995093014 Congenital deafness with inner ear agenesis, microtia, and microdontia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995100017 LAMM syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995419019 Congenital deafness with labyrinthine aplasia, microtia and microdontia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995862014 Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3700314013 A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995093014 Congenital deafness with inner ear agenesis, microtia, and microdontia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995093014 Congenital deafness with inner ear agenesis, microtia, and microdontia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995100017 LAMM syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995419019 Congenital deafness with labyrinthine aplasia, microtia and microdontia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995419019 Congenital deafness with labyrinthine aplasia, microtia and microdontia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995862014 Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995862014 Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3700314013 A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452401001000110 Schwerhörigkeit mit Labyrinthaplasie - Mikrotie - Mikrodontie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904531000241117 surdité congénitale avec aplasie du labyrinthe, microtie et microdontie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904541000241110 syndrome LAMM (labyrinthine aplasia, microtia and microdontia) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904551000241113 surdité congénitale avec agénésie de l'oreille interne, microtie et microdontie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904531000241117 surdité congénitale avec aplasie du labyrinthe, microtie et microdontie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904541000241110 syndrome LAMM (labyrinthine aplasia, microtia and microdontia) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904551000241113 surdité congénitale avec agénésie de l'oreille interne, microtie et microdontie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452401001000110 Schwerhörigkeit mit Labyrinthaplasie - Mikrotie - Mikrodontie 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
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Microdontia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Microtia true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital deafness true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Inner ear structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site External ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital anomaly of inner ear true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital anomaly of tooth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Growth alteration false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital deafness with labyrinthine aplasia, microtia and microdontia Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Decreased hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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