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385297003: Congenital deformity (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1459476014 Congenital deformity (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1479549012 Congenital deformity en Synonym (core metadata concept) 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 deformity Is a anomalie congénitale false Inferred relationship Some
    Congenital deformity Is a Deformity false Inferred relationship Some
    Congenital deformity Is a Congenital abnormal shape false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital deformity of chest wall Associated morphology False Congenital deformity Inferred relationship Some 2
    Thoracoschisis Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital split ear lobe (disorder) Associated morphology False Congenital deformity Inferred relationship Some 2
    Amniotic adhesion Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital flat back deformity (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital plagiocephaly with pelvic obliquity (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital positional plagiocephaly Associated morphology False Congenital deformity Inferred relationship Some 1
    Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. Associated morphology False Congenital deformity Inferred relationship Some 1
    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Associated morphology False Congenital deformity Inferred relationship Some 5
    Congenital keratoconus (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital keratoconus posticus circumscriptus Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital pes cavus of bilateral feet (disorder) Associated morphology False Congenital deformity Inferred relationship Some 4
    Congenital pes cavus of bilateral feet (disorder) Associated morphology False Congenital deformity Inferred relationship Some 5
    Congenital pes cavus of bilateral feet (disorder) Associated morphology False Congenital deformity Inferred relationship Some 6
    Congenital pes cavus of left foot (disorder) Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital pes cavus of left foot (disorder) Associated morphology False Congenital deformity Inferred relationship Some 4
    Congenital pes cavus of right foot (disorder) Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital pes cavus of right foot (disorder) Associated morphology False Congenital deformity Inferred relationship Some 4
    Congenital mallet toe (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Associated morphology False Congenital deformity Inferred relationship Some 6
    Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Associated morphology False Congenital deformity Inferred relationship Some 4
    Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Associated morphology False Congenital deformity Inferred relationship Some 5
    Congenital deformity of toe (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Lop ear deformity Associated morphology False Congenital deformity Inferred relationship Some 1
    Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Associated morphology False Congenital deformity Inferred relationship Some 2
    Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital deformity of right clavicle (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital deformity of left clavicle (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital abnormal curvature Is a False Congenital deformity Inferred relationship Some
    A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Associated morphology False Congenital deformity Inferred relationship Some 1

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