771179007: Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Viscus structure finding\Cardiac finding\Heart disease\Cardiac arrhythmia\...

\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

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

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Finding of head circumference\Microcephaly\Congenital microcephaly\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Degenerative disorder\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Aberrant premature complexes\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ventricular arrhythmia\Ventricular premature complex\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Ectopic beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Premature beats\Multiple premature ventricular complexes\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704764011 Char Douglas Dungan syndrome en Synonym Active Case sensitive SNOMED CT core

3704765012 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3704766013 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome en Synonym Active Case insensitive SNOMED CT core

3704767016 A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Finding site	Ventricular conducting pathway	true	Inferred relationship	Some	2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Associated morphology	Hyperpigmentation	true	Inferred relationship	Some	1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Finding site	Structure of head	true	Inferred relationship	Some	3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Multiple premature ventricular complexes	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Genetic disorder of skin pigmentation	false	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Congenital cardiovascular disorder	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Ventricular premature beats	false	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	Inherited cutaneous hyperpigmentation	true	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3704764011	Char Douglas Dungan syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3704765012	Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3704766013	Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3704767016	A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.	en	Definition	Active	Case sensitive	SNOMED CT core