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720814001: Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    3322154010 Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3322155011 Craniosynostosis with facial dysmorphism and brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3322156012 Glass Chapman Hockley syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322157015 This syndrome has a variable clinical picture of premature coronal suture synostosis with a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly (involving only fingers, not metacarpals). It has been reported in only one family with five affected individuals in three generations. Prenatal diagnosis of abnormal head shape was done at a routine ultrasound examination for one of the grandchildren, at 28 weeks of pregnancy. The pedigree suggests an autosomal dominantly inherited condition, but no gene could be identified for this syndrome, considered as a distinct craniosynostosis entity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322154010 Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3322154010 Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3322155011 Craniosynostosis with facial dysmorphism and brachydactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3322155011 Craniosynostosis with facial dysmorphism and brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3322156012 Glass Chapman Hockley syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3322157015 This syndrome has a variable clinical picture of premature coronal suture synostosis with a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly (involving only fingers, not metacarpals). It has been reported in only one family with five affected individuals in three generations. Prenatal diagnosis of abnormal head shape was done at a routine ultrasound examination for one of the grandchildren, at 28 weeks of pregnancy. The pedigree suggests an autosomal dominantly inherited condition, but no gene could be identified for this syndrome, considered as a distinct craniosynostosis entity. 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
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a Craniosynostosis syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a Brachydactyly of hand (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Entire digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Entire digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology Congenital premature fusion 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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