722117000: syndroom van osteosclerose, ontwikkelingsachterstand en craniosynostose (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome (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\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome (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 facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome (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\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome (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

3330762013 Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330765010 Osteosclerosis, developmental delay, craniosynostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6973621000146110 syndroom van osteosclerose, ontwikkelingsachterstand en craniosynostose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6973641000146116 syndroom van osteosclerose, ontwikkelingsachterstand en craniosynostose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3330770015 Syndrome with characteristics of osteosclerosis, developmental delay and craniosynostosis. It has been reported in 13 patients from a four-generation family. Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw. A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene. 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
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Osteosclerosis	false	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Associated morphology	Bony sclerosis	true	Inferred relationship	Some	2
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Associated morphology	Bony sclerosis	false	Inferred relationship	Some	3
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	3
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3330762013	Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330765010	Osteosclerosis, developmental delay, craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6973621000146110	syndroom van osteosclerose, ontwikkelingsachterstand en craniosynostose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6973641000146116	syndroom van osteosclerose, ontwikkelingsachterstand en craniosynostose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3330770015	Syndrome with characteristics of osteosclerosis, developmental delay and craniosynostosis. It has been reported in 13 patients from a four-generation family. Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw. A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core