1172629005: Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome

Descriptions:

Id Description Lang Type Status Case? Module

4634867015 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4634868013 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4634871017 A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634872012 A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7263521000172112 syndroom van ernstige groeiachterstand, strabismus, uitgebreide dermale melanocytose en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7263531000172110 syndroom van ernstige groeiachterstand, scheelzien, uitgebreide dermale melanose en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7263541000172115 syndroom van ernstige groeiachterstand, strabisme, uitgebreide mongolenvlekken en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Blue sclera (disorder)	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Mongolian spot	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Hyperpigmentation of skin	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Finding site	Scleral structure	true	Inferred relationship	Some	3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Finding site	Skin structure	true	Inferred relationship	Some	4
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Associated morphology	Blue nevus	true	Inferred relationship	Some	4
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Associated morphology	Hyperpigmentation	true	Inferred relationship	Some	2
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
4634867015	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634868013	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634871017	A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634872012	A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7263521000172112	syndroom van ernstige groeiachterstand, strabismus, uitgebreide dermale melanocytose en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7263531000172110	syndroom van ernstige groeiachterstand, scheelzien, uitgebreide dermale melanose en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7263541000172115	syndroom van ernstige groeiachterstand, strabisme, uitgebreide mongolenvlekken en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)