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722003007: Intellectual disability with cataract and kyphosis syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3330097017 Intellectual disability with cataract and kyphosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330098010 Intellectual disability with cataract and kyphosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330096014 This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3330097017 Intellectual disability with cataract and kyphosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3330097017 Intellectual disability with cataract and kyphosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330098010 Intellectual disability with cataract and kyphosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3330098010 Intellectual disability with cataract and kyphosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330096014 This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3408751001000110 MEDNIK-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3408751001000110 MEDNIK-Syndrom 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
    MEDNIK-Syndrom Is a Congenital kyphosis false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Is a Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 3
    MEDNIK-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    MEDNIK-Syndrom Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    MEDNIK-Syndrom Associated morphology Abnormal curvature (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    MEDNIK-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    MEDNIK-Syndrom Finding site Musculoskeletal structure of spine false Inferred relationship Existential restriction modifier (core metadata concept) 4
    MEDNIK-Syndrom Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    MEDNIK-Syndrom Finding site Musculoskeletal structure of spine false Inferred relationship Existential restriction modifier (core metadata concept) 2
    MEDNIK-Syndrom Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    MEDNIK-Syndrom Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    MEDNIK-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    MEDNIK-Syndrom Is a Congenital anomaly of vertebral region of back (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Associated morphology Abnormal curvature (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    MEDNIK-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    MEDNIK-Syndrom Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
    MEDNIK-Syndrom Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Associated morphology Opacity false Inferred relationship Existential restriction modifier (core metadata concept) 1
    MEDNIK-Syndrom Is a deformità congenita della colonna vertebrale false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    MEDNIK-Syndrom Interprets Intellectual ability (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    MEDNIK-Syndrom Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    MEDNIK-Syndrom Interprets Adaptation behavior false Inferred relationship Existential restriction modifier (core metadata concept) 4
    MEDNIK-Syndrom Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    MEDNIK-Syndrom Associated morphology Anteroposterior abnormal curvature false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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