733072002: Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Stimmler syndrome

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

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Stimmler syndrome

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Stimmler syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome

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

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Stimmler syndrome

\Finding of head circumference\Microcephaly\Congenital microcephaly\Stimmler syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Stimmler syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Stimmler syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Stimmler syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Stimmler syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Stimmler syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Stimmler syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Stimmler syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Stimmler syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Stimmler syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Stimmler syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Stimmler syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stimmler syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Stimmler syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Stimmler syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498678018 Stimmler syndrome en Synonym Active Case sensitive SNOMED CT core

3498679014 Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome en Synonym Active Case insensitive SNOMED CT core

3498680012 Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stimmler syndrome	Pathological process	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	Pathological developmental process	true	Inferred relationship	Some	3
Stimmler syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	2
Stimmler syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Stimmler syndrome	Finding site	Structure of endocrine system	false	Inferred relationship	Some	1
Stimmler syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Stimmler syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Stimmler syndrome	Pathological process	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	true	Inferred relationship	Some	3
Stimmler syndrome	Associated morphology	Congenital smallness	true	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	Structure of head	true	Inferred relationship	Some	1
Stimmler syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Stimmler syndrome	Is a	Amelogenesis imperfecta	true	Inferred relationship	Some
Stimmler syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Stimmler syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	7
Stimmler syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Stimmler syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	8
Stimmler syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
Stimmler syndrome	Is a	Microcephalus	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	Intellectual disability	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	false	Inferred relationship	Some
Stimmler syndrome	Is a	Hereditary disorder of endocrine system	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	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	Congenital smallness	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	Congenital smallness	false	Inferred relationship	Some	3
Stimmler syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Stimmler syndrome	Finding site	Structure of endocrine system	false	Inferred relationship	Some	4
Stimmler syndrome	Associated morphology	Congenital hypoplasia	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use size reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498678018	Stimmler syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498679014	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498680012	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core