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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1208681014 Developmental abnormality en Synonym Active Case insensitive SNOMED CT core
    183282017 Developmental anomaly en Synonym Active Case insensitive SNOMED CT core
    190336012 Developmental malformation en Synonym Active Case insensitive SNOMED CT core
    190337015 Developmental defect en Synonym Active Case insensitive SNOMED CT core
    190338013 Dysgenesis en Synonym Active Case insensitive SNOMED CT core
    190339017 Anomalous formation en Synonym Active Case insensitive SNOMED CT core
    190340015 Abnormal development en Synonym Active Case insensitive SNOMED CT core
    190341016 Malformation en Synonym Active Case insensitive SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cleft of hard palate and cleft lip Associated morphology False Developmental abnormality Inferred relationship Some 4
    Parkes Weber syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Cleft palate and bilateral cleft lip Associated morphology False Developmental abnormality Inferred relationship Some 5
    Cleft of soft palate and cleft lip Associated morphology False Developmental abnormality Inferred relationship Some 5
    Oromandibular-limb hypogenesis spectrum Associated morphology False Developmental abnormality Inferred relationship Some 4
    Cleft hard and soft palate with cleft lip Associated morphology False Developmental abnormality Inferred relationship Some 4
    Manifest-latent nystagmus Associated morphology False Developmental abnormality Inferred relationship Some 1
    Lethal tight skin contracture syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cleft of soft palate and bilateral cleft lip Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital diverticulum of oesophagus Associated morphology False Developmental abnormality Inferred relationship Some 1
    Anomaly of eye Associated morphology False Developmental abnormality Inferred relationship Some 1
    Macrodactyly of hand Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital valgus deformity of foot Associated morphology False Developmental abnormality Inferred relationship Some 1
    Talipes calcaneovalgus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Talipes planovalgus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital malposition of talus Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital vertical talus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital convex pes valgus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital varus ankle Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital valgus ankle Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital rearfoot valgus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital forefoot valgus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Talipes equinocavovarus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital thickening of radius Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital thickening of tibia Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital thickening of ulna Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital pulmonary arteriovenous aneurysm Associated morphology False Developmental abnormality Inferred relationship Some 4
    Neurofibromatosis Noonan syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital thickening of tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some 1
    Fetal varicella syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Preauricular dimple Associated morphology False Developmental abnormality Inferred relationship Some 3
    Nicolaides-Baraitser syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oto-onycho-peroneal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Oto-onycho-peroneal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Oto-onycho-peroneal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Oto-onycho-peroneal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Phenobarbital embryopathy Associated morphology False Developmental abnormality Inferred relationship Some 1
    McDonough syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Delayed membranous cranial ossification Associated morphology False Developmental abnormality Inferred relationship Some 3
    Naxos disease Associated morphology False Developmental abnormality Inferred relationship Some 5
    Naxos disease Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ophthalmomandibulomelic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 5
    Ophthalmomandibulomelic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Autosomal recessive distal osteolysis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Pituitary stalk interruption syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Lissencephaly type 1 due to doublecortin gene mutation Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acrocallosal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Autosomal recessive distal osteolysis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acrocallosal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Glomuvenous malformation Associated morphology False Developmental abnormality Inferred relationship Some 1
    Waardenburg Shah syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    MacDermot Winter syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    GMS syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Schinzel phocomelia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Diabetic embryopathy Associated morphology False Developmental abnormality Inferred relationship Some 2
    X-linked retinal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Neurofibromatosis Noonan syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Isolated lissencephaly type 1 without known genetic defect Associated morphology False Developmental abnormality Inferred relationship Some 2
    Craniofrontonasal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 1
    Craniotelencephalic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acromelic frontonasal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 1
    Indomethacin embryofetopathy Associated morphology False Developmental abnormality Inferred relationship Some 1
    Mirror polydactyly, vertebral segmentation and limb defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Lethal arthrogryposis with anterior horn cell disease Associated morphology False Developmental abnormality Inferred relationship Some 4
    Desmin related myopathy with Mallory body-like inclusions Associated morphology False Developmental abnormality Inferred relationship Some 1
    Ischio-vertebral syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Deafness craniofacial syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Cerebellar ataxia and ectodermal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 4
    Amelo-onycho-hypohidrotic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Reardon Hall Slaney syndrome Associated morphology False Developmental abnormality Inferred relationship Some 9
    Reardon Hall Slaney syndrome Associated morphology False Developmental abnormality Inferred relationship Some 10
    Crane Heise syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Crane Heise syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Seaver Cassidy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Seaver Cassidy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Seaver Cassidy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Zlotogora Ogur syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital ptosis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Ectodermal dysplasia with natal teeth Turnpenny type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital myogenic ptosis Associated morphology False Developmental abnormality Inferred relationship Some 4
    Familial isolated arrhythmogenic right ventricular dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pseudoaminopterin syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Pseudoaminopterin syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Fetal diethylstilbestrol syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Binder syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Lowry Yong syndrome Associated morphology False Developmental abnormality Inferred relationship Some 10
    Wellesley Carman French syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Gollop syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, group B Associated morphology False Developmental abnormality Inferred relationship Some 2
    Non-neurologic xeroderma pigmentosum Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pigmented xerodermoid Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, group C Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, group G Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, group F Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, group A Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, group E Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, group D Associated morphology False Developmental abnormality Inferred relationship Some 2

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