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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
2995100017 LAMM syndrome en Synonym Active Case sensitive SNOMED CT core
2995419019 Congenital deafness with labyrinthine aplasia, microtia and microdontia en Synonym Active Case insensitive SNOMED CT core
2995862014 Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital anomaly of inner ear true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital anomaly of tooth true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Growth alteration true Inferred relationship Some 5
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Tooth structure true Inferred relationship Some 5
Congenital deafness with labyrinthine aplasia, microtia and microdontia Interprets Hearing true Inferred relationship Some 4
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process Pathological developmental process true Inferred relationship Some 5
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Developmental abnormality false Inferred relationship Some 6
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Tooth structure false Inferred relationship Some 6
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process Pathological developmental process false Inferred relationship Some 6
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Developmental hereditary disorder true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Hereditary disorder of tooth true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Microdontia true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process Pathological developmental process true Inferred relationship Some 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Digestive system hereditary disorder false Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Microtia true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence Congenital true Inferred relationship Some 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process Pathological developmental process true Inferred relationship Some 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Multiple system malformation syndrome true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence Congenital true Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Auditory system hereditary disorder true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence Congenital true Inferred relationship Some 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Congenital deafness true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a Hearing loss associated with syndrome true Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Tooth structure true Inferred relationship Some 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site Inner ear structure true Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Finding site External ear structure true Inferred relationship Some 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology Congenital smallness true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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