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62599000: 9p partial monosomy 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
    104045014 9p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    104046010 9p minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    104047018 9p monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    801788018 9p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    9p partial monosomy syndrome Is a Monosomy and deletion from autosome false Inferred relationship Some
    9p partial monosomy syndrome Is a Anomaly of chromosome pair 9 false Inferred relationship Some
    9p partial monosomy syndrome Associated morphology Deletion of short arm false Inferred relationship Some 2
    9p partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
    9p partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 3
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 3
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 3
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 3
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 3
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 3
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 3
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Associated morphology Deletion of short arm false Inferred relationship Some
    9p partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
    9p partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
    9p partial monosomy syndrome Occurrence Congenital false Inferred relationship Some 1
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
    9p partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
    9p partial monosomy syndrome Associated morphology Deletion of short arm false Inferred relationship Some 1
    9p partial monosomy syndrome Occurrence Congenital false Inferred relationship Some 2
    9p partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 2
    9p partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 2
    9p partial monosomy syndrome Is a Deletion of part of chromosome 9 (disorder) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    9q22.3 deletion syndrome Is a False 9p partial monosomy syndrome Inferred relationship Some
    Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. Is a False 9p partial monosomy syndrome Inferred relationship Some
    9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). Is a False 9p partial monosomy syndrome Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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