722376008: Autosomal recessive popliteal pterygium syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Finding of limb structure\Finding of lower limb\Finding of knee region\Disorder of knee\Popliteal pterygium syndrome\Bartsocas Papas syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Bartsocas Papas syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome

\Disease\Disorder of joint region\Disorder of knee\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Bartsocas Papas syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bartsocas Papas syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Bartsocas Papas syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Bartsocas Papas syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Bartsocas Papas syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Bartsocas Papas syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Bartsocas Papas syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Bartsocas Papas syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Bartsocas Papas syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Bartsocas Papas syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Bartsocas Papas syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331740018 Autosomal recessive popliteal pterygium syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331741019 Autosomal recessive popliteal pterygium syndrome en Synonym Active Case insensitive SNOMED CT core

3331742014 Bartsocas Papas syndrome en Synonym Active Case sensitive SNOMED CT core

3331743016 Lethal popliteal pterygium syndrome en Synonym Active Case insensitive SNOMED CT core

3331744010 A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bartsocas Papas syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Bartsocas Papas syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Bartsocas Papas syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Bartsocas Papas syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Bartsocas Papas syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Bartsocas Papas syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Bartsocas Papas syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Bartsocas Papas syndrome	Associated morphology	Congenital webbing	true	Inferred relationship	Some	2
Bartsocas Papas syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Bartsocas Papas syndrome	Finding site	Popliteal region structure	true	Inferred relationship	Some	2
Bartsocas Papas syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Bartsocas Papas syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Bartsocas Papas syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Bartsocas Papas syndrome	Is a	Popliteal pterygium syndrome	true	Inferred relationship	Some
Bartsocas Papas syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Bartsocas Papas syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Bartsocas Papas syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Bartsocas Papas syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Bartsocas Papas syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Bartsocas Papas syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Bartsocas Papas syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	3
Bartsocas Papas syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Bartsocas Papas syndrome	Associated morphology	Congenital webbing	false	Inferred relationship	Some	5
Bartsocas Papas syndrome	Finding site	Popliteal region structure	false	Inferred relationship	Some	5
Bartsocas Papas syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Bartsocas Papas syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331740018	Autosomal recessive popliteal pterygium syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331741019	Autosomal recessive popliteal pterygium syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331742014	Bartsocas Papas syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331743016	Lethal popliteal pterygium syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331744010	A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported.	en	Definition	Active	Case sensitive	SNOMED CT core