720984008: Angel-shaped phalangoepiphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Angel-shaped phalangoepiphyseal dysplasia (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angel-shaped phalangoepiphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Angel-shaped phalangoepiphyseal dysplasia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3322778013 Angel-shaped phalangoepiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322779017 Angel-shaped phalango-epiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322780019 ASPED - angel-shaped phalango-epiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402554010 A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402555011 A form of acromelic dysplasia characterised by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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 (core metadata concept)	SNOMED CT core
3322778013	Angel-shaped phalangoepiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322779017	Angel-shaped phalango-epiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322780019	ASPED - angel-shaped phalango-epiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402554010	A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402555011	A form of acromelic dysplasia characterised by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core