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8447006: Congenital anomaly of skeletal bone (disorder)


Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
14942016 Congenital anomaly of skeletal bone en Synonym Active Entire term case insensitive SNOMED CT core module
14945019 Congenital skeletal anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
14946018 Anomaly of skeletal development en Synonym Active Entire term case insensitive SNOMED CT core module
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3006510017 Congenital malformation of skeletal bone en Synonym Active Entire term case insensitive SNOMED CT core module


1632 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
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Is a Disorder of bone false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone Due to True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier 2
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Early-onset calcifying leukoencephalopathy, skeletal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier

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