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721086004: Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3323433019 Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3323434013 Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3323435014 Pfeiffer Kapferer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Congenital skeletal dysplasia true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Congenital anomaly of metatarsal bone true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Congenital anomaly of metacarpal bone true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Congenital malformation of genital organs true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier 5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 6
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Interprets Functional observable false Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Metacarpal bone structure false Inferred relationship Existential restriction modifier 7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Metatarsal bone structure false Inferred relationship Existential restriction modifier 9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Genital structure false Inferred relationship Existential restriction modifier 8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Metacarpal bone structure true Inferred relationship Existential restriction modifier 1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Metatarsal bone structure true Inferred relationship Existential restriction modifier 3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Genital structure true Inferred relationship Existential restriction modifier 4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site Structure of auditory system true Inferred relationship Existential restriction modifier 5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 8

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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