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8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, 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
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11451001000113 Angeborene Skelettanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11461001000110 Angeborene Knochenanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4416831000241116 anomalie congénitale d'un os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4416831000241116 anomalie congénitale d'un os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11451001000113 Angeborene Skelettanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11461001000110 Angeborene Knochenanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1821 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone 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
Chondrodysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Familial expansile osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Bent bone dysplasia group Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Craniodiaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Chondroectodermal dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly with caudal dysgenesis syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Kniest-Stickler dysplasia group Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Frank-Ter Haar syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Leri's pleonosteosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterised by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Greig cephalopolysyndactyly syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Idiopathic multicentric osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osteosclerosis - Stanescu type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Craniometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osteopoikilosis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Ballard syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis, type IA Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Dysosteosclerosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Hypochondroplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Dyschondrosteose - Nephritis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Kantaputra type (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Coxoauricular syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis type 1 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Boomerang dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like osseous dysplasia, short stature syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis type 3 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Desbuquois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Nievergelt's syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Cleidorhizomelic syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Leri-Weill dyschondrosteosis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Langer mesomelic dysplasia syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Pseudodiastrophic dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Diastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic syndrome Urbach type Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplastic chondrodystrophy Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive brachyolmia (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Hall Riggs syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia A4 type (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia - Sutcliffe type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Axial spondylometaphyseal dysplasia (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spondylolisthesis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous dysplasia of bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Brachyrachia (short spine dysplasia) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Francois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal osteosclerotic dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
hydromyélocèle Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Lipomyelomeningocele (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coronal cleft of vertebra (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Kniest-like syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Kniest dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Kniest-Stickler dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of patella (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Pygopagus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysplasia of bone caused by drug Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sagittal cleft of vertebra (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital defects of vertebral segmentation Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia of upper limb (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osteoglophonic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary bone of foot (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of bone of forearm (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)

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