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719212004: Smith Fineman Myers syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3315432010 Smith Fineman Myers syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3315433017 Smith Fineman Myers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3315434011 An X-linked mental retardation syndrome characterized by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation and behavioral problems. Prevalence is unknown. Since its initial description in 1980, the disorder has been described in males from 11 families and in one isolated case. In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family has been mapped to a 19.8 Mb interval on Xq25. Transmission is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3315435012 An X-linked mental retardation syndrome characterised by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation and behavioural problems. Prevalence is unknown. Since its initial description in 1980, the disorder has been described in males from 11 families and in one isolated case. In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family has been mapped to a 19.8 Mb interval on Xq25. Transmission is X-linked 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
    Smith Fineman Myers syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
    Smith Fineman Myers syndrome Is a Mental retardation false Inferred relationship Some
    Smith Fineman Myers syndrome Is a X-linked hereditary disease false Inferred relationship Some
    Smith Fineman Myers syndrome Is a Short stature disorder false Inferred relationship Some
    Smith Fineman Myers syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
    Smith Fineman Myers syndrome Occurrence Congenital false Inferred relationship Some 2
    Smith Fineman Myers syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
    Smith Fineman Myers syndrome Occurrence Congenital false Inferred relationship Some 3
    Smith Fineman Myers syndrome Finding site Limb structure false Inferred relationship Some 2
    Smith Fineman Myers syndrome Finding site Face structure false Inferred relationship Some 3
    Smith Fineman Myers syndrome Is a Intellectual disability false Inferred relationship Some
    Smith Fineman Myers syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    Smith Fineman Myers syndrome Occurrence Congenital false Inferred relationship Some 1
    Smith Fineman Myers syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Smith Fineman Myers syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    Smith Fineman Myers syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Smith Fineman Myers syndrome Finding site Face structure false Inferred relationship Some 1
    Smith Fineman Myers syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Smith Fineman Myers syndrome Interprets Height / growth measure false Inferred relationship Some 3
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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