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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
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
69120017 Multiple malformation syndrome with limb defect as major feature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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
778232013 Multiple malformation syndrome with limb defect as major feature (disorder) en Fully specified name Active 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
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

322 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 (core metadata concept)
Multiple malformation syndrome with limb defect as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with limb defect as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with limb defect as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with limb defect as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with limb defect as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with limb defect as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies syndrome characterised by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex, trismus, pseudocamptodactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Radio-renal syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lower limb malformation hypospadias syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly polydactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hallux varus, preaxial polysyndactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Absent radius, anogenital anomalies syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Radial deficiency, tibial hypoplasia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly, polydactyly, ear lobe syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Heart defect, tongue hamartoma, polysyndactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Antecubital pterygium syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Odontotrichomelic syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hand-foot-genital syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Timothy syndrome type 2 (disorder) Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrocardiofacial syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal thumb and polysyndactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
Acrocephalosyndactyly Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Sugarman brachydactyly (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Timothy syndrome type 1 Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Kantaputra type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Inverse Klippel Trénaunay syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)

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