715867000: Pseudoaminopterin syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Pseudoaminopterin syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pseudoaminopterin syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303986018 Pseudoaminopterin syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3303987010 Pseudoaminopterin syndrome en Synonym Active Case insensitive SNOMED CT core

3303990016 Aminopterin syndrome-like sine aminopterin en Synonym Active Case insensitive SNOMED CT core

3303989013 A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudoaminopterin syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
Pseudoaminopterin syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Pseudoaminopterin syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pseudoaminopterin syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Pseudoaminopterin syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	3
Pseudoaminopterin syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Pseudoaminopterin syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Pseudoaminopterin syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Pseudoaminopterin syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	3
Pseudoaminopterin syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Pseudoaminopterin syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Pseudoaminopterin syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pseudoaminopterin syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Pseudoaminopterin syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Pseudoaminopterin syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Pseudoaminopterin syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	4
Pseudoaminopterin syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Pseudoaminopterin syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	4
Pseudoaminopterin syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Pseudoaminopterin syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Pseudoaminopterin syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Pseudoaminopterin syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Pseudoaminopterin syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Pseudoaminopterin syndrome	Finding site	Limb structure	false	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303986018	Pseudoaminopterin syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303987010	Pseudoaminopterin syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3303990016	Aminopterin syndrome-like sine aminopterin	en	Synonym	Active	Case insensitive	SNOMED CT core
3303989013	A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature.	en	Definition	Active	Case sensitive	SNOMED CT core