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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
Femoral hypoplasia - unusual facies syndrome (disorder) Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Holt-Oram syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Levy-Hollister syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Nievergelt's syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Adams-Oliver syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Poland anomaly Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Popliteal pterygium syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Aase syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Grebe syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Escobar syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Polysyndactyly syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Radial aplasia-thrombocytopenia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Popliteal web syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
RAPADILINO syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmo-acromelic syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Limb body wall complex Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterised by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocamptodactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
L1 syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Absence deformity of leg and congenital cataract syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mammary digital nail syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
DK phocomelia syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Stapes ankylosis with broad thumb and toe syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acropectoral syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acropectororenal dysplasia Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acropectorovertebral dysplasia Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Campomelia Cumming type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cenani Lenz syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cooks syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Philadelphia type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fibular dimelia diplopodia syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 2 (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome Slovenian type (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Oliver syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lung agenesis with heart defect and thumb anomaly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ballard syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Catel Manzke syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fuhrmann syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cryptomicrotia brachydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
5-amino-4-imidazole carboxamide ribosiduria (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis fibular aplasia syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Symphalangism with multiple anomalies of hands and feet syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly and distal symphalangism syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterised the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Banki syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal thumb and dislocation of patella syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Long thumb brachydactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly myopia syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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)

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