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733090001: Microcephalus, digital anomaly, intellectual disability syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3498728013 Microcephalus, digital anomaly, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3498729017 Microcephalus, digital anomaly, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3498730010 Kelly Kirson Wyatt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3499969019 Syndrome with characteristics of congenital microcephaly with a sharply sloping forehead, digital anomalies (hallux valgus, syndactyly of the toes, short fifth fingers with a single flexion crease and absence of the distal interphalangeal crease of the fourth finger) and moderate to severe intellectual deficit. Less than 10 patients have been described so far. Linkage analysis has identified a candidate region on chromosome 18 (18p11.2-q12.3). Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3498728013 Microcephalus, digital anomaly, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3498729017 Microcephalus, digital anomaly, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3498730010 Kelly Kirson Wyatt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3499969019 Syndrome with characteristics of congenital microcephaly with a sharply sloping forehead, digital anomalies (hallux valgus, syndactyly of the toes, short fifth fingers with a single flexion crease and absence of the distal interphalangeal crease of the fourth finger) and moderate to severe intellectual deficit. Less than 10 patients have been described so far. Linkage analysis has identified a candidate region on chromosome 18 (18p11.2-q12.3). Transmission is autosomal recessive. 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
    Microcephalus, digital anomaly, intellectual disability syndrome Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Is a Multiple malformation syndrome with limb defect as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Is a Congenital anomaly of digit false Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus, digital anomaly, intellectual disability syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus, digital anomaly, intellectual disability syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus, digital anomaly, intellectual disability syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus, digital anomaly, intellectual disability syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus, digital anomaly, intellectual disability syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus, digital anomaly, intellectual disability syndrome Is a Intelligenzminderung 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)

    REPLACED BY association reference set (foundation metadata concept)

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