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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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

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

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