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67798003: Congenital premature fusion (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    112607017 Congenital premature fusion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    112609019 Congenital premature closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    807561017 Congenital premature fusion (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    112607017 Congenital premature fusion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    112607017 Congenital premature fusion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    112609019 Congenital premature closure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    112609019 Congenital premature closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    807561017 Congenital premature fusion (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    807561017 Congenital premature fusion (morphologic abnormality) 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
    Congenital premature fusion Is a Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Premature closure of foramen ovale Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Scaphycephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept)
    Premature closure of foramen ovale Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocephalosyndactyly type V (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Interparietal craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Parieto-occipital craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Cloverleaf skull syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Saethre-Chotzen syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniosynostosis syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Brachycephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Interfrontal craniofaciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Unicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Baller-Gerold syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Crouzon syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Apert's syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 5
    Schprintzen Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fronto-malar faciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Antley-Bixler syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Cloverleaf skull syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniosynostosis syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Brachycephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Unicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Saethre-Chotzen syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Schprintzen Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocephalosyndactyly type I Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrocephalosyndactyly type I Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Interfrontal craniofaciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Crouzon syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 5
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Parieto-occipital craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniosynostosis syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Antley-Bixler syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 5
    Brachycephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Interparietal craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fronto-malar faciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Cloverleaf skull syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Saethre-Chotzen syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Acrocephalosyndactyly type I Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Schprintzen Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Carpenter's syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Unicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Crouzon syndrome with acanthosis nigricans (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 5
    Baller-Gerold syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 6
    Cutis gyrata syndrome of Beare and Stevenson (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrocephalosyndactyly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrocephalopolysyndactyly type II Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Interparietal craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocephalopolysyndactyly (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocephalopolysyndactyly type III (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocephalosyndactyly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrocephalopolysyndactyly type III (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrocephalopolysyndactyly type II Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Simple craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocephalopolysyndactyly (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Complex craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Trigonocephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Jackson-Weiss syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Premature restriction of foramen ovale (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Vomero-premaxillary faciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Vomero-premaxillary faciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Premature closure of foramen ovale Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Closed ductus venosus Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Complete perimaxillary faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrobrachycephaly Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Antley-Bixler syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 7
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    Premature restriction of foramen ovale (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 1
    C syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Holoprosencephaly craniosynostosis syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Pseudoaminopterin syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 6
    Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 6
    Shprintzen Goldberg craniosynostosis syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 5
    Trigonocephaly with broad thumb syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 9
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 7
    Cardiocranial syndrome Pfeiffer type (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 12
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 5
    Craniosynostosis and intracranial calcification syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 5
    Craniosynostosis Philadelphia type (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniosynostosis Boston type (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniofacial dyssynostosis syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 3
    Capra DeMarco syndrome Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 7
    Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology False Congenital premature fusion Inferred relationship Existential restriction modifier (core metadata concept) 6

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    Reference Sets

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