715482004: Microcephalic primordial dwarfism of Toriello type (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism of Toriello type (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism of Toriello type (disorder)

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

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism of 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

3302775019 Microcephalic primordial dwarfism of Toriello type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302776018 Microcephalic primordial dwarfism of Toriello type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302778017 Microcephalic primordial dwarfism Toriello type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302777010 Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

999531000172113 nanisme microcéphalique primordial type Toriello fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

884441000172110 primordiale dwerggroei met microcefalie, Toriello-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	microcéphalie	false	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	Primordial dwarfism	true	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism of Toriello type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Microcephalic primordial dwarfism of Toriello type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Microcephalic primordial dwarfism of Toriello type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism of Toriello type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Microcephalic primordial dwarfism of Toriello type (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephalic primordial dwarfism of Toriello type (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Microcephalic primordial dwarfism of Toriello type (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2

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
3302775019	Microcephalic primordial dwarfism of Toriello type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302776018	Microcephalic primordial dwarfism of Toriello type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302778017	Microcephalic primordial dwarfism Toriello type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302777010	Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
999531000172113	nanisme microcéphalique primordial type Toriello	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
884441000172110	primordiale dwerggroei met microcefalie, Toriello-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)