FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

37764001: Congenital abnormal 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
    62997012 Congenital abnormal fusion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    63002015 Congenitally fused structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    63003013 Congenital failure of segmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    63004019 Congenital failure of cleavage en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    769668015 Congenital abnormal 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 abnormal fusion Is a anomalie congénitale false Inferred relationship Some
    Congenital abnormal fusion Is a Fusion false Inferred relationship Some
    Congenital abnormal fusion Is a Congenital malformation false Inferred relationship Some
    Congenital abnormal fusion Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Radioulnar synostosis of bilateral upper limbs Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Fetal epignathus with conjoined twins (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 6
    Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 7
    Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 8
    Simple syndactyly of toes of second web space of bilateral feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Simple syndactyly of toes of second web space of bilateral feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Jackson-Weiss syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Bilateral congenital tibiofibular synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Simple syndactyly of toes of first web space of bilateral feet Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Simple syndactyly of toes of first web space of bilateral feet Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Synostosis of bilateral humerus and ulna (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Synostosis of bilateral humerus and ulna (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Bilateral humero-radio-ulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Bilateral humero-radio-ulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Bilateral humero-radio-ulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Bilateral humero-radio-ulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Bilateral humero-radio-ulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Bilateral humero-radio-ulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 6
    Bilateral congenital tibiofibular synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Pfeiffer syndrome type 1 (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Pfeiffer syndrome type 2 (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Pfeiffer syndrome type 3 (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Sternopagus (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Syndactyly of fingers of bilateral hands Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Syndactyly of fingers of bilateral hands Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Thoracoomphalopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Thoracoomphalopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital abnormal fusion of right carpal bones (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Bilateral congenital abnormal fusion of carpal bones Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Bilateral congenital abnormal fusion of carpal bones Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Congenital abnormal fusion of left carpal bones (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Congenital radioulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Congenital radioulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1

    Start Previous Page 9 of 9

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

    Back to Start