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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
4525321000241116 syndrome d'anomalies congénitales multiples avec anomalies des membres comme caractéristiques principales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

320 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with limb defect as major feature Is a Multiple system malformation syndrome true Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature Occurrence Congenital false Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature Associated morphology Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature Associated morphology anomalie du développement false Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature Associated morphology Morphologically abnormal structure (morphologic abnormality) 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
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked lethal multiple pterygium syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Hartsfield syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Cono-spondylar dysplasia (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Radio-renal syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Lower limb malformation hypospadias syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ectrodactyly polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Hallux varus, preaxial polysyndactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ectodermal dysplasia syndactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
14q22q23 microdeletion syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Radial deficiency, tibial hypoplasia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Thoracomelic dysplasia (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Antecubital pterygium syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Odontotrichomelic syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Hand-foot-genital syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Timothy syndrome type 2 (disorder) Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acrocardiofacial syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acrocephalosyndactyly Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Sugarman brachydactyly (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Timothy syndrome type 1 (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Mesomelic dysplasia Savarirayan type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some

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