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721087008: Deafness and intellectual disability Martin Probst type syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3323439015 Deafness and intellectual disability Martin Probst type syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323440018 Deafness and intellectual disability Martin Probst type syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323441019 Martin Probst syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323442014 X-linked deafness and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402593018 A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402594012 A rare X-linked syndromic intellectual disability characterised by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. 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
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Bilateral hearing loss true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Auditory system hereditary disorder false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Finding site Ear structure false Inferred relationship Some 2
Deafness and intellectual disability Martin Probst type syndrome (disorder) Interprets Hearing true Inferred relationship Some 3
Deafness and intellectual disability Martin Probst type syndrome (disorder) Interprets Functional observable false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome (disorder) Finding site Face structure false Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Deafness and intellectual disability Martin Probst type syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a X-linked sensorineural hearing loss true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Deafness and intellectual disability Martin Probst type syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

GB English

US English

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