715631005: Chondrodysplasia punctata Toriello type (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (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\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (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\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata Toriello type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303236018 Chondrodysplasia punctata Toriello type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303237010 Chondrodysplasia punctata Toriello type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303238017 Toriello Higgins Miller syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400996014 Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400997017 Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterised by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. 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
Chondrodysplasia punctata Toriello type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondrodysplasia punctata Toriello type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia punctata Toriello type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Is a	Developmental hereditary 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
3303236018	Chondrodysplasia punctata Toriello type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303237010	Chondrodysplasia punctata Toriello type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303238017	Toriello Higgins Miller syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400996014	Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400997017	Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterised by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core