733072002: syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus (aandoening)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Enamel hypoplasia\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Enamel hypoplasia\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Enamel hypoplasia\Stimmler syndrome
\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\Stimmler syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Enamel hypoplasia\Stimmler syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Enamel hypoplasia\Stimmler syndrome
\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\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Stimmler syndrome
\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\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Enamel hypoplasia\Stimmler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Stimmler syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Stimmler syndrome

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Stimmler syndrome
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Stimmler syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Stimmler syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Stimmler syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Stimmler syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Stimmler syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498678018 Stimmler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498679014 Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498680012 Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6742791000146117 syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6742801000146118 syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6742811000146116 syndroom van Stimmler nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3499960015 Syndrome with the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. 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
Stimmler syndrome	Is a	microcefalie	false	Inferred relationship	Some
Stimmler syndrome	Is a	Enamel hypoplasia	true	Inferred relationship	Some
Stimmler syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Stimmler syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Stimmler syndrome	Is a	Diabetes mellitus	true	Inferred relationship	Some
Stimmler syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Stimmler syndrome	Is a	mentale retardatie	false	Inferred relationship	Some
Stimmler syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Stimmler syndrome	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some
Stimmler syndrome	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Stimmler syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Stimmler syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Stimmler syndrome	Is a	Congenital anomaly of tooth (disorder)	false	Inferred relationship	Some
Stimmler syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Stimmler syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Stimmler syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	5
Stimmler syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Stimmler syndrome	Finding site	Brain structure	false	Inferred relationship	Some	5
Stimmler syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	3
Stimmler syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Stimmler syndrome	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some	4
Stimmler syndrome	Associated morphology	congenitale hypoplasie (afwijkende morfologie)	false	Inferred relationship	Some	3
Stimmler syndrome	Finding site	Enamel structure	false	Inferred relationship	Some	3
Stimmler syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Stimmler syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Stimmler syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Stimmler syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Stimmler syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Stimmler syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	2
Stimmler syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Stimmler syndrome	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some	1
Stimmler syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Stimmler syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Stimmler syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Stimmler syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
Stimmler syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Stimmler syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Stimmler syndrome	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	3
Stimmler syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
Stimmler syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Stimmler syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	6
Stimmler syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Stimmler syndrome	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Stimmler syndrome	Is a	Amelogenesis imperfecta (disorder)	true	Inferred relationship	Some
Stimmler syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Stimmler syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	7
Stimmler syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Stimmler syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	8
Stimmler syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
Stimmler syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1
Stimmler syndrome	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498678018	Stimmler syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498679014	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498680012	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6742791000146117	syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6742801000146118	syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6742811000146116	syndroom van Stimmler	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3499960015	Syndrome with the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core