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722111004: Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3330735017 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330736016 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330737013 This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3330735017 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3330735017 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330736016 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3330736016 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330737013 This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3445941001000110 Ichthyose-Hypotrichose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3445941001000110 Ichthyose-Hypotrichose-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
    Ichthyose-Hypotrichose-Syndrom Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a Osteopenia false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Finding site Structure of auditory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ichthyose-Hypotrichose-Syndrom Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Ichthyose-Hypotrichose-Syndrom Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Associated morphology Osteopenia false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Ichthyose-Hypotrichose-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Ichthyose-Hypotrichose-Syndrom Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Ichthyose-Hypotrichose-Syndrom Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
    Ichthyose-Hypotrichose-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
    Ichthyose-Hypotrichose-Syndrom Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
    Ichthyose-Hypotrichose-Syndrom Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ichthyose-Hypotrichose-Syndrom Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
    Ichthyose-Hypotrichose-Syndrom Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ichthyose-Hypotrichose-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ichthyose-Hypotrichose-Syndrom Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ichthyose-Hypotrichose-Syndrom Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ichthyose-Hypotrichose-Syndrom Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ichthyose-Hypotrichose-Syndrom Associated morphology Osteopenia false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ichthyose-Hypotrichose-Syndrom Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ichthyose-Hypotrichose-Syndrom Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

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

    GB English

    US English

    REPLACED BY association reference set (foundation metadata concept)

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