720984008: Angel-shaped phalangoepiphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Angel-shaped phalangoepiphyseal dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3322777015 Angel-shaped phalangoepiphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3322778013 Angel-shaped phalangoepiphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3322779017 Angel-shaped phalango-epiphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3322780019 ASPED - angel-shaped phalango-epiphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Angel-shaped phalangoepiphyseal dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia	Is a	Congenital anomaly of limb	true	Inferred relationship	Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Angel-shaped phalangoepiphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Angel-shaped phalangoepiphyseal dysplasia	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	1
Angel-shaped phalangoepiphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Angel-shaped phalangoepiphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Angel-shaped phalangoepiphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322777015	Angel-shaped phalangoepiphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322778013	Angel-shaped phalangoepiphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322779017	Angel-shaped phalango-epiphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322780019	ASPED - angel-shaped phalango-epiphyseal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module