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107656002: Congenital anomaly (morphologic abnormality)

    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
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Keratosis pilaris with ichthyosis and deafness Associated morphology False anomalie congénitale Inferred relationship Some 4
    Correction of congenital deformity of forefoot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of forefoot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Soft tissue release for correction of congenital deformity of forefoot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Soft tissue release for correction of congenital deformity of forefoot Direct morphology False anomalie congénitale Inferred relationship Some 3
    Correction of congenital hallux valgus Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital hallux valgus Direct morphology False anomalie congénitale Inferred relationship Some 3
    Correction of congenital hallux valgus Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital hallux varus Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital hallux varus Direct morphology False anomalie congénitale Inferred relationship Some 2
    Walker-Warburg congenital muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Walker-Warburg congenital muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Dickson-Diveley operation Direct morphology False anomalie congénitale Inferred relationship Some 2
    Dickson-Diveley operation Direct morphology False anomalie congénitale Inferred relationship Some 3
    Tendon transfer and arthrodesis to correct claw toe Direct morphology False anomalie congénitale Inferred relationship Some 2
    Tendon transfer and arthrodesis to correct claw toe Direct morphology False anomalie congénitale Inferred relationship Some 3
    Congenital tracheo-oesophageal cleft Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital tracheo-oesophageal cleft Associated morphology False anomalie congénitale Inferred relationship Some 3
    Undergrowth of the thumb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Undergrowth of the thumb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Duplication of whole lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of whole lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital undergrowth of partial lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital undergrowth of partial lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital sacrococcygeal anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital sacrococcygeal anomaly Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital sacrococcygeal anomaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Neurofibromatosis type 3 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neurofibromatosis type 3 Associated morphology False anomalie congénitale Inferred relationship Some 3
    Ash leaf spot, tuberous sclerosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ash leaf spot, tuberous sclerosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Shagreen patch Associated morphology False anomalie congénitale Inferred relationship Some 2
    Shagreen patch Associated morphology False anomalie congénitale Inferred relationship Some 3
    Correction of curly fifth toe Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of curly fifth toe Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of curly fifth toe Direct morphology False anomalie congénitale Inferred relationship Some 3
    testicule non descendu unilatéral Associated morphology False anomalie congénitale Inferred relationship Some 1
    testicule non descendu unilatéral Associated morphology False anomalie congénitale Inferred relationship Some 2
    Undescended testes - bilateral Associated morphology False anomalie congénitale Inferred relationship Some 1
    Undescended testes - bilateral Associated morphology False anomalie congénitale Inferred relationship Some 2
    Duplication of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False anomalie congénitale Inferred relationship Some 1
    Rudimentary uterus in male Associated morphology False anomalie congénitale Inferred relationship Some 3
    Heyman operation Direct morphology False anomalie congénitale Inferred relationship Some 1
    Heyman operation Direct morphology False anomalie congénitale Inferred relationship Some 2
    Brockman operation Direct morphology False anomalie congénitale Inferred relationship Some 1
    Brockman operation Direct morphology False anomalie congénitale Inferred relationship Some 1
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Facial asymmetry Associated morphology False anomalie congénitale Inferred relationship Some 1
    Facial asymmetry Associated morphology False anomalie congénitale Inferred relationship Some 2
    Neurofibromatosis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Neurofibromatosis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    Primordial cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Primordial cyst Associated morphology False anomalie congénitale Inferred relationship Some 3
    Fibrous skin tumor of tuberous sclerosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Fibrous skin tumor of tuberous sclerosis Associated morphology False anomalie congénitale Inferred relationship Some 3
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False anomalie congénitale Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False anomalie congénitale Inferred relationship Some 2
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False anomalie congénitale Inferred relationship Some 2
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False anomalie congénitale Inferred relationship Some 3
    Von Hippel-Lindau syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Von Hippel-Lindau syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Peutz-Jeghers polyps of small bowel Associated morphology False anomalie congénitale Inferred relationship Some 2
    Peutz-Jeghers polyps of small bowel Associated morphology False anomalie congénitale Inferred relationship Some 3
    Peutz-Jeghers syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    Peutz-Jeghers syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pili torti-deafness syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pili torti-deafness syndrome Associated morphology False anomalie congénitale Inferred relationship Some 4
    Dewebbing of syndactyly of toes Direct morphology False anomalie congénitale Inferred relationship Some 3
    Dewebbing of syndactyly of toes Direct morphology False anomalie congénitale Inferred relationship Some 4
    Repair of claw toe Direct morphology False anomalie congénitale Inferred relationship Some 2
    Repair of claw toe Direct morphology False anomalie congénitale Inferred relationship Some 3
    Tuberous sclerosis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Tuberous sclerosis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Muscle transfer for claw toe repair Direct morphology False anomalie congénitale Inferred relationship Some 3
    Muscle transfer for claw toe repair Direct morphology False anomalie congénitale Inferred relationship Some 2
    Neurocutaneous syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Mixed gonadal dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mixed gonadal dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lateral developmental cyst of jaw Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lateral developmental cyst of jaw Associated morphology False anomalie congénitale Inferred relationship Some 4
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False anomalie congénitale Inferred relationship Some 3
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False anomalie congénitale Inferred relationship Some 5
    Neurofibromatosis type 2 Associated morphology False anomalie congénitale Inferred relationship Some 2
    Neurofibromatosis type 2 Associated morphology False anomalie congénitale Inferred relationship Some 4
    Neurofibromatosis type 1 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neurofibromatosis type 1 Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of basisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of basisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of epididymis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of epididymis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of presphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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