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41443008: Multiple malformation syndrome with limb defect as major feature (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
69120017 Multiple malformation syndrome with limb defect as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
69121018 Multiple malformation syndrome with limb defect as major feature, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
778232013 Multiple malformation syndrome with limb defect as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

306 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with limb defect as major feature morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature survenue (attribut) congénital true Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature survenue (attribut) congénital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome de Furhmann est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Temple Baraitser syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder) est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Symphalangism with multiple anomalies of hands and feet syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Brachydactyly and distal symphalangism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de Banki est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Triphalangeal thumb and dislocation of patella syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Long thumb brachydactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Polydactyly myopia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
X-linked lethal multiple pterygium syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Hartsfield syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Cono-spondylar dysplasia (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome radio-rénal est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Lower limb malformation hypospadias syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ectrodactyly polydactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Hallux varus, preaxial polysyndactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some

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