733066002: Trigonocephaly, short stature, developmental delay syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Trigonocephaly, short stature, developmental delay syndrome

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

\Finding of head region\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\...

\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome

\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Trigonocephaly, short stature, developmental delay syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Developmental delay\Trigonocephaly, short stature, developmental delay syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Trigonocephaly, short stature, developmental delay syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3498662015 Trigonocephaly, short stature, developmental delay syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498663013 Trigonocephaly, short stature, developmental delay syndrome en Synonym Active Case insensitive SNOMED CT core

3498664019 Say Meyer syndrome en Synonym Active Case sensitive SNOMED CT core

3499954015 Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trigonocephaly, short stature, developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Trigonocephaly, short stature, developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Trigonocephaly, short stature, developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome	Finding site	Structure of frontal suture of skull	true	Inferred relationship	Some	1
Trigonocephaly, short stature, developmental delay syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Trigonocephaly, short stature, developmental delay syndrome	Associated morphology	Abnormal shape	true	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Trigonocephaly, short stature, developmental delay syndrome	Is a	Trigonocephaly	true	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome	Is a	Developmental delay	true	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome	Finding site	Frontal bone structure	true	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Trigonocephaly, short stature, developmental delay syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome	Finding site	Structure of frontal suture of skull	false	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	3
Trigonocephaly, short stature, developmental delay syndrome	Finding site	Frontal bone structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498662015	Trigonocephaly, short stature, developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498663013	Trigonocephaly, short stature, developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498664019	Say Meyer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499954015	Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out.	en	Definition	Active	Case sensitive	SNOMED CT core